DERL2 derlin 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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14 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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MGeND data only
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| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CGI-101 |
| SYNONYM | DERtrin-2 |
| SYNONYM | F-LAN-1 |
| SYNONYM | F-LANa |
| SYNONYM | FLANa |
| SYNONYM | derlin-2 |
| MIM | 610304 OMIM |
| HGNC | HGNC:17943 HGNC |
| Ensembl | ENSG00000072849 Ensembl |
| AllianceGenome | HGNC:17943 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000570848.5 | hg38 | chr17 | 5,474,610 | 5,486,178 | 11,569 |
| ENST00000158771.9 | hg38 | chr17 | 5,471,254 | 5,486,178 | 14,925 |
| ENST00000572834.5 | hg38 | chr17 | 5,474,452 | 5,486,162 | 11,711 |
| ENST00000158771.9 | hg19 | chr17 | 5,374,574 | 5,389,498 | 14,925 |
| ENST00000572834.5 | hg19 | chr17 | 5,377,772 | 5,389,482 | 11,711 |
| ENST00000570848.5 | hg19 | chr17 | 5,377,930 | 5,389,498 | 11,569 |
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